| scholarly article | Q13442814 |
| P50 | author | Rolf H Sijmons | Q43117829 |
| Amanda Spurdle | Q45904058 | ||
| Maurizio Genuardi | Q55414619 | ||
| William David Foulkes | Q37829195 | ||
| Robert Hofstra | Q43097735 | ||
| P2093 | author name string | Lawrence C Brody | |
| Olga Sinilnikova | |||
| Sharon E Plon | |||
| IARC Unclassified Genetic Variants Working Group | |||
| Marc S Greenblatt | |||
| Magali Olivier | |||
| P2860 | cites work | A survey of locus-specific database curation. Human Genome Variation Society | Q43232350 |
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| A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases | Q50146740 | ||
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| Recommendations for locus-specific databases and their curation | Q24646762 | ||
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| Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR). | Q30360539 | ||
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| Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2 | Q33910123 | ||
| Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases | Q34127341 | ||
| Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance. | Q34252077 | ||
| Biallelic mutations in p16(INK4a) confer resistance to Ras- and Ets-induced senescence in human diploid fibroblasts | Q34286570 | ||
| Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. | Q34713545 | ||
| Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results | Q34788325 | ||
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| In silico analysis of missense substitutions using sequence-alignment based methods | Q36200498 | ||
| A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes | Q36492194 | ||
| Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes | Q36862037 | ||
| Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral | Q36927199 | ||
| Assessment of functional effects of unclassified genetic variants | Q37308298 | ||
| Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. | Q38301022 | ||
| Use of the American College of Radiology BI-RADS guidelines by community radiologists: concordance of assessments and recommendations assigned to screening mammograms | Q39606096 | ||
| The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association | Q40483208 | ||
| P433 | issue | 11 | |
| P304 | page(s) | 1273-1281 | |
| P577 | publication date | 2008-11-01 | |
| P1433 | published in | Human Mutation | Q5937269 |
| P1476 | title | Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes | |
| P478 | volume | 29 |
| Q57200486 | A database to support the interpretation of human mismatch repair gene variants |
| Q34961153 | Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database |
| Q42394236 | Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group |
| Q37308298 | Assessment of functional effects of unclassified genetic variants |
| Q39012719 | CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment. |
| Q90315966 | Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network |
| Q54364278 | Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. |
| Q50728624 | Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory |
| Q89317557 | Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants |
| Q38484600 | DRUMS: a human disease related unique gene mutation search engine |
| Q37460645 | Interpreting secondary cardiac disease variants in an exome cohort |
| Q30484637 | Leiden Open Variation Database of the MUTYH gene |
| Q93361002 | Lessons learned from two decades of BRCA1 and BRCA2 genetic testing: the evolution of data sharing and variant classification |
| Q28744635 | Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs) |
| Q33704900 | Prediction and assessment of splicing alterations: implications for clinical testing |
| Q30401706 | Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed |
| Q36096070 | Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes |
| Q34788325 | Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results |
| Q37334266 | The Clinical Significance of Unknown Sequence Variants in BRCA Genes. |
| Q38857623 | Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation |
| Q34252077 | Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance. |
| Q43937975 | UMD-CFTR: a database dedicated to CF and CFTR-related disorders |
| Q30689554 | Using exome data to identify malignant hyperthermia susceptibility mutations |
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